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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8WXF7: Variant p.Arg415Trp

Atlastin-1
Gene: ATL1
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Variant information Variant position: help 415 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Arginine (R) to Tryptophan (W) at position 415 (R415W, p.Arg415Trp). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from large size and basic (R) to large size and aromatic (W) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In SPG3. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 415 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 558 The length of the canonical sequence.
Location on the sequence: help KEESVKLFRGVKKMGGEEFS R RYLQQLESEIDELYIQYIKH The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         KEESVKLFRGVKKMGGEEFSRRYLQQLESEIDELYIQYIKH

Mouse                         KEESVKLFRGVKKMGGEEFSRRYLQQLESEIDELYIQYIKH

Rat                           KEDSVKLFRGVKKMGGEEFSRRYLQQLESEIDELYIQYIKH

Bovine                        KEESVKLFRGVKKMGGEEFSRRYLQQLETEIDELYIQYIKH
Sequence annotation in neighborhood: help The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.
TypePositionsDescription
Chain 1 – 558 Atlastin-1
Topological domain 1 – 449 Cytoplasmic
Coiled coil 412 – 439
Modified residue 395 – 395 N6-acetyllysine
Mutagenesis 398 – 398 S -> Y. Affects endoplasmic reticulum and Golgi morphology.
Helix 410 – 437



Literature citations
Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene.
D'Amico A.; Tessa A.; Sabino A.; Bertini E.; Santorelli F.M.; Servidei S.;
Neurology 62:2138-2139(2004)
Cited for: VARIANT SPG3 TRP-415; Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.
Alvarez V.; Sanchez-Ferrero E.; Beetz C.; Diaz M.; Alonso B.; Corao A.I.; Gamez J.; Esteban J.; Gonzalo J.F.; Pascual-Pascual S.I.; Lopez de Munain A.; Moris G.; Ribacoba R.; Marquez C.; Rosell J.; Marin R.; Garcia-Barcina M.J.; Del Castillo E.; Benito C.; Coto E.;
BMC Neurol. 10:89-89(2010)
Cited for: VARIANTS SPG3 GLU-154; CYS-239; ILE-253; VAL-413; TRP-415; THR-440 AND TRP-495; Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia.
Varga R.E.; Schuele R.; Fadel H.; Valenzuela I.; Speziani F.; Gonzalez M.; Rudenskaia G.; Nuernberg G.; Thiele H.; Altmueller J.; Alvarez V.; Gamez J.; Garbern J.Y.; Nuernberg P.; Zuchner S.; Beetz C.;
Hum. Mutat. 34:860-863(2013)
Cited for: VARIANTS SPG3 GLN-415 AND TRP-415;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.